PNLIP (pancreatic lipase) - Rat Genome Database

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Gene: PNLIP (pancreatic lipase) Homo sapiens
Analyze
Symbol: PNLIP
Name: pancreatic lipase
RGD ID: 734222
HGNC Page HGNC:9155
Description: Enables lipase activity. Involved in lipid metabolic process. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: pancreatic triacylglycerol lipase; PL; PNLIPD; PTL; triacylglycerol acylhydrolase; triacylglycerol lipase
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PNLIPP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810116,545,931 - 116,567,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10116,545,931 - 116,567,855 (+)EnsemblGRCh38hg38GRCh38
GRCh3710118,305,443 - 118,327,367 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610118,295,418 - 118,317,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410118,295,448 - 118,317,356NCBI
Celera10112,034,704 - 112,056,644 (+)NCBICelera
Cytogenetic Map10q25.3NCBI
HuRef10111,932,653 - 111,954,591 (+)NCBIHuRef
CHM1_110118,588,590 - 118,610,538 (+)NCBICHM1_1
T2T-CHM13v2.010117,439,962 - 117,461,884 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA,TAS)
extracellular space  (IBA,IDA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mechanisms involved in the intestinal absorption of dietary vitamin A and provitamin A carotenoids. Harrison EH Biochim Biophys Acta. 2012 Jan;1821(1):70-7. Epub 2011 Jun 12.
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Pnlip encoding pancreatic lipase is possible candidate for obesity QTL in the OLETF rat. Muramatsu Y, etal., Biochem Biophys Res Commun 2005 Jun 17;331(4):1270-6.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1379598   PMID:1522902   PMID:1783385   PMID:2106079   PMID:2479644   PMID:7601150   PMID:7893686   PMID:8029213   PMID:8125298   PMID:8406023   PMID:8479519   PMID:9240923  
PMID:9631512   PMID:10769148   PMID:11278590   PMID:11393534   PMID:12369922   PMID:12477932   PMID:12667003   PMID:14580194   PMID:15316225   PMID:15489334   PMID:15583024   PMID:16179352  
PMID:16385451   PMID:16431912   PMID:17269661   PMID:17933690   PMID:18353248   PMID:19113953   PMID:19346257   PMID:20136147   PMID:20150178   PMID:20936779   PMID:21873635   PMID:22393262  
PMID:23918603   PMID:24262094   PMID:24489884   PMID:24650780   PMID:25239347   PMID:25748441   PMID:25862608   PMID:27243230   PMID:28514442   PMID:30789418   PMID:31917686   PMID:33961781  
PMID:34373204   PMID:36583522   PMID:37270400   PMID:38081381  


Genomics

Comparative Map Data
PNLIP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810116,545,931 - 116,567,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10116,545,931 - 116,567,855 (+)EnsemblGRCh38hg38GRCh38
GRCh3710118,305,443 - 118,327,367 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610118,295,418 - 118,317,357 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410118,295,448 - 118,317,356NCBI
Celera10112,034,704 - 112,056,644 (+)NCBICelera
Cytogenetic Map10q25.3NCBI
HuRef10111,932,653 - 111,954,591 (+)NCBIHuRef
CHM1_110118,588,590 - 118,610,538 (+)NCBICHM1_1
T2T-CHM13v2.010117,439,962 - 117,461,884 (+)NCBIT2T-CHM13v2.0
Pnlip
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391958,658,797 - 58,670,231 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1958,640,930 - 58,670,220 (+)EnsemblGRCm39 Ensembl
GRCm381958,670,365 - 58,681,799 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1958,652,498 - 58,681,788 (+)EnsemblGRCm38mm10GRCm38
MGSCv371958,744,855 - 58,756,278 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361958,723,615 - 58,735,038 (+)NCBIMGSCv36mm8
Celera1960,867,340 - 60,878,784 (+)NCBICelera
Cytogenetic Map19D2NCBI
cM Map1929.0NCBI
Pnlip
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81267,760,073 - 267,797,797 (+)NCBIGRCr8
mRatBN7.21257,774,012 - 257,811,656 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1257,798,581 - 257,811,654 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1266,009,226 - 266,022,367 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01272,715,238 - 272,728,379 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01265,351,509 - 265,364,696 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01279,798,187 - 279,811,372 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1279,798,187 - 279,811,372 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01287,136,617 - 287,172,914 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41265,107,812 - 265,120,969 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11265,318,856 - 265,332,014 (+)NCBI
Celera1253,456,158 - 253,469,343 (+)NCBICelera
Cytogenetic Map1q55NCBI
PNLIP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28128,391,967 - 128,445,865 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110128,428,918 - 128,451,163 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010113,067,443 - 113,158,473 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110116,568,110 - 116,589,729 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10116,568,273 - 116,589,729 (+)Ensemblpanpan1.1panPan2
PNLIP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12827,139,028 - 27,156,457 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2827,139,230 - 27,212,178 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2827,289,546 - 27,307,018 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02827,675,675 - 27,693,147 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2827,675,917 - 27,749,003 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12827,230,205 - 27,247,650 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02827,249,644 - 27,267,077 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02827,438,556 - 27,456,027 (+)NCBIUU_Cfam_GSD_1.0
PNLIP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14126,772,911 - 126,790,001 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114126,771,920 - 126,789,097 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214138,017,775 - 138,032,310 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PNLIP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19109,330,050 - 109,375,687 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9109,352,806 - 109,375,670 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604870,600,324 - 70,623,276 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PNLIP
194 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q25.3(chr10:114584882-117015907)x1 copy number loss See cases [RCV000050821] Chr10:114584882..117015907 [GRCh38]
Chr10:116344641..118775418 [GRCh37]
Chr10:116334631..118765408 [NCBI36]
Chr10:10q25.3		 pathogenic
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 copy number loss See cases [RCV000052570] Chr10:107191100..118761489 [GRCh38]
Chr10:108950858..120521001 [GRCh37]
Chr10:108940848..120510991 [NCBI36]
Chr10:10q25.1-26.11		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
NM_000936.2(PNLIP):c.702G>A (p.Met234Ile) single nucleotide variant Malignant melanoma [RCV000068817] Chr10:116555398 [GRCh38]
Chr10:118314910 [GRCh37]
Chr10:118304900 [NCBI36]
Chr10:10q25.3		 not provided
NM_000936.2(PNLIP):c.620G>A (p.Arg207Gln) single nucleotide variant Malignant melanoma [RCV000062003] Chr10:116555226 [GRCh38]
Chr10:118314738 [GRCh37]
Chr10:118304728 [NCBI36]
Chr10:10q25.3		 not provided
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 copy number gain See cases [RCV000137511] Chr10:112701186..120970617 [GRCh38]
Chr10:114460945..122730130 [GRCh37]
Chr10:114450935..122720120 [NCBI36]
Chr10:10q25.2-26.12		 likely pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh37/hg19 10q25.3(chr10:118327326-118486839)x1 copy number loss See cases [RCV000240347] Chr10:118327326..118486839 [GRCh37]
Chr10:10q25.3		 uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000936.4(PNLIP):c.526G>A (p.Gly176Arg) single nucleotide variant not provided [RCV000498894] Chr10:116553793 [GRCh38]
Chr10:118313305 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.662C>T (p.Thr221Met) single nucleotide variant Pancreatic triacylglycerol lipase deficiency [RCV000490560] Chr10:116555268 [GRCh38]
Chr10:118314780 [GRCh37]
Chr10:10q25.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Distal 10q deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_000936.4(PNLIP):c.1257G>A (p.Trp419Ter) single nucleotide variant Pancreatic triacylglycerol lipase deficiency [RCV000625648]|not provided [RCV002533142] Chr10:116561559 [GRCh38]
Chr10:118321071 [GRCh37]
Chr10:10q25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000936.4(PNLIP):c.873C>A (p.Ile291=) single nucleotide variant not provided [RCV000943798] Chr10:116556061 [GRCh38]
Chr10:118315573 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.798C>T (p.Asp266=) single nucleotide variant not provided [RCV000971386] Chr10:116555494 [GRCh38]
Chr10:118315006 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.984T>C (p.Ala328=) single nucleotide variant not provided [RCV000971387] Chr10:116559207 [GRCh38]
Chr10:118318719 [GRCh37]
Chr10:10q25.3		 benign
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_000936.4(PNLIP):c.486= (p.Asn162=) variation not provided [RCV000948854] Chr10:116553753 [GRCh38]
Chr10:118313265 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.96A>C (p.Pro32=) single nucleotide variant not provided [RCV000947289] Chr10:116547343 [GRCh38]
Chr10:118306855 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.1359C>T (p.Thr453=) single nucleotide variant not provided [RCV000947290] Chr10:116567759 [GRCh38]
Chr10:118327271 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.674C>T (p.Pro225Leu) single nucleotide variant not specified [RCV004314630] Chr10:116555280 [GRCh38]
Chr10:118314792 [GRCh37]
Chr10:10q25.3		 uncertain significance
NC_000010.10:g.(?_118318646)_(118318815_?)del deletion not provided [RCV003105378] Chr10:118318646..118318815 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1029T>G (p.Tyr343Ter) single nucleotide variant Pancreatic lipase deficiency [RCV001335479] Chr10:116559252 [GRCh38]
Chr10:118318764 [GRCh37]
Chr10:10q25.3		 pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3		 pathogenic
NM_000936.4(PNLIP):c.486T>C (p.Asn162=) single nucleotide variant Pancreatic triacylglycerol lipase deficiency [RCV001789569]|not provided [RCV002541268] Chr10:116553753 [GRCh38]
Chr10:118313265 [GRCh37]
Chr10:10q25.3		 benign
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) copy number loss not specified [RCV002052892] Chr10:117019650..125217066 [GRCh37]
Chr10:10q25.3-26.13		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_000936.4(PNLIP):c.160C>G (p.Arg54Gly) single nucleotide variant not provided [RCV003110510] Chr10:116547407 [GRCh38]
Chr10:118306919 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1202A>G (p.Asn401Ser) single nucleotide variant not provided [RCV003114993] Chr10:116561504 [GRCh38]
Chr10:118321016 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.794T>G (p.Ile265Arg) single nucleotide variant not provided [RCV003112208] Chr10:116555490 [GRCh38]
Chr10:118315002 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.900C>A (p.Phe300Leu) single nucleotide variant not provided [RCV003112209] Chr10:116556088 [GRCh38]
Chr10:118315600 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.63C>T (p.Tyr21=) single nucleotide variant not provided [RCV003117243] Chr10:116547310 [GRCh38]
Chr10:118306822 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1241T>C (p.Met414Thr) single nucleotide variant not provided [RCV003112361] Chr10:116561543 [GRCh38]
Chr10:118321055 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.465G>A (p.Ala155=) single nucleotide variant not provided [RCV003119030] Chr10:116553732 [GRCh38]
Chr10:118313244 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.315T>C (p.Asn105=) single nucleotide variant not provided [RCV002774858] Chr10:116548473 [GRCh38]
Chr10:118307985 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.414C>T (p.Ile138=) single nucleotide variant not provided [RCV002858324] Chr10:116551187 [GRCh38]
Chr10:118310699 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.47-13T>C single nucleotide variant not provided [RCV002991451] Chr10:116547281 [GRCh38]
Chr10:118306793 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.901C>G (p.Pro301Ala) single nucleotide variant not provided [RCV002991481]|not specified [RCV004068535] Chr10:116556089 [GRCh38]
Chr10:118315601 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1081G>A (p.Val361Ile) single nucleotide variant not provided [RCV002861611] Chr10:116560436 [GRCh38]
Chr10:118319948 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.486_487inv (p.Val163Met) inversion not provided [RCV003014156] Chr10:116553753..116553754 [GRCh38]
Chr10:118313265..118313266 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.958G>C (p.Gly320Arg) single nucleotide variant not provided [RCV002858212] Chr10:116559181 [GRCh38]
Chr10:118318693 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1335-3C>T single nucleotide variant not provided [RCV002971618] Chr10:116567732 [GRCh38]
Chr10:118327244 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.571+13A>G single nucleotide variant not provided [RCV002731030] Chr10:116553851 [GRCh38]
Chr10:118313363 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.330G>A (p.Leu110=) single nucleotide variant not provided [RCV002862175] Chr10:116551103 [GRCh38]
Chr10:118310615 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.492T>G (p.His164Gln) single nucleotide variant not specified [RCV004161076] Chr10:116553759 [GRCh38]
Chr10:118313271 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1154A>G (p.Gln385Arg) single nucleotide variant not provided [RCV002750679] Chr10:116560509 [GRCh38]
Chr10:118320021 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.373G>A (p.Gly125Ser) single nucleotide variant not provided [RCV002991872] Chr10:116551146 [GRCh38]
Chr10:118310658 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.817C>T (p.Arg273Ter) single nucleotide variant not provided [RCV003015605] Chr10:116556005 [GRCh38]
Chr10:118315517 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.215A>G (p.Asp72Gly) single nucleotide variant not provided [RCV002750850] Chr10:116548373 [GRCh38]
Chr10:118307885 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.99G>A (p.Trp33Ter) single nucleotide variant not provided [RCV002863731] Chr10:116547346 [GRCh38]
Chr10:118306858 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.420C>T (p.Ile140=) single nucleotide variant not provided [RCV002908948] Chr10:116551193 [GRCh38]
Chr10:118310705 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.1319C>T (p.Thr440Ile) single nucleotide variant not provided [RCV002843168]|not specified [RCV004064952] Chr10:116561621 [GRCh38]
Chr10:118321133 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.545C>T (p.Thr182Ile) single nucleotide variant not provided [RCV002947889] Chr10:116553812 [GRCh38]
Chr10:118313324 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.469G>A (p.Gly157Ser) single nucleotide variant not provided [RCV002996347]|not specified [RCV004068483] Chr10:116553736 [GRCh38]
Chr10:118313248 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1085C>T (p.Thr362Ile) single nucleotide variant not provided [RCV002816637] Chr10:116560440 [GRCh38]
Chr10:118319952 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.711C>T (p.Val237=) single nucleotide variant not provided [RCV002902980] Chr10:116555407 [GRCh38]
Chr10:118314919 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.1241T>A (p.Met414Lys) single nucleotide variant not provided [RCV002902982] Chr10:116561543 [GRCh38]
Chr10:118321055 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.1025T>C (p.Phe342Ser) single nucleotide variant not provided [RCV002880690] Chr10:116559248 [GRCh38]
Chr10:118318760 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1131C>T (p.Phe377=) single nucleotide variant not provided [RCV002902981] Chr10:116560486 [GRCh38]
Chr10:118319998 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.180T>C (p.Asn60=) single nucleotide variant not provided [RCV002775120] Chr10:116547427 [GRCh38]
Chr10:118306939 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.324+11G>A single nucleotide variant not provided [RCV002750963] Chr10:116548493 [GRCh38]
Chr10:118308005 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.689T>G (p.Leu230Trp) single nucleotide variant not provided [RCV002731574] Chr10:116555295 [GRCh38]
Chr10:118314807 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.189A>C (p.Pro63=) single nucleotide variant not provided [RCV002903973] Chr10:116547436 [GRCh38]
Chr10:118306948 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1021A>C (p.Lys341Gln) single nucleotide variant not provided [RCV003039421] Chr10:116559244 [GRCh38]
Chr10:118318756 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1392G>A (p.Pro464=) single nucleotide variant not provided [RCV002786125] Chr10:116567792 [GRCh38]
Chr10:118327304 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1060C>T (p.Arg354Cys) single nucleotide variant not provided [RCV002909211] Chr10:116559283 [GRCh38]
Chr10:118318795 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1114A>T (p.Ile372Leu) single nucleotide variant not provided [RCV003055383] Chr10:116560469 [GRCh38]
Chr10:118319981 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.712G>A (p.Val238Met) single nucleotide variant not provided [RCV002760490] Chr10:116555408 [GRCh38]
Chr10:118314920 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.931-3T>C single nucleotide variant not provided [RCV002948529] Chr10:116559151 [GRCh38]
Chr10:118318663 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.470G>A (p.Gly157Asp) single nucleotide variant not provided [RCV002602758]|not specified [RCV004068906] Chr10:116553737 [GRCh38]
Chr10:118313249 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1087C>T (p.Leu363=) single nucleotide variant not provided [RCV002976309] Chr10:116560442 [GRCh38]
Chr10:118319954 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.571G>A (p.Gly191Arg) single nucleotide variant not provided [RCV002638279] Chr10:116553838 [GRCh38]
Chr10:118313350 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1149T>C (p.Ser383=) single nucleotide variant not provided [RCV002820261] Chr10:116560504 [GRCh38]
Chr10:118320016 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.64G>A (p.Glu22Lys) single nucleotide variant not provided [RCV003080698] Chr10:116547311 [GRCh38]
Chr10:118306823 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.999_1000delinsTT (p.Lys334Ter) indel not provided [RCV002847363] Chr10:116559222..116559223 [GRCh38]
Chr10:118318734..118318735 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.930+9A>G single nucleotide variant not provided [RCV002847681] Chr10:116556127 [GRCh38]
Chr10:118315639 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1242G>T (p.Met414Ile) single nucleotide variant not provided [RCV002824965] Chr10:116561544 [GRCh38]
Chr10:118321056 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.325-5A>G single nucleotide variant not provided [RCV002923551] Chr10:116551093 [GRCh38]
Chr10:118310605 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.175A>G (p.Thr59Ala) single nucleotide variant not provided [RCV002621093] Chr10:116547422 [GRCh38]
Chr10:118306934 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1219G>A (p.Val407Met) single nucleotide variant not provided [RCV003002698] Chr10:116561521 [GRCh38]
Chr10:118321033 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.161G>A (p.Arg54His) single nucleotide variant not specified [RCV004233128] Chr10:116547408 [GRCh38]
Chr10:118306920 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.460-5G>A single nucleotide variant not provided [RCV003019828] Chr10:116553722 [GRCh38]
Chr10:118313234 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.468C>T (p.Phe156=) single nucleotide variant not provided [RCV002891124] Chr10:116553735 [GRCh38]
Chr10:118313247 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.691+17G>A single nucleotide variant not provided [RCV002740739] Chr10:116555314 [GRCh38]
Chr10:118314826 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.161G>T (p.Arg54Leu) single nucleotide variant not provided [RCV003025694] Chr10:116547408 [GRCh38]
Chr10:118306920 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.479C>A (p.Pro160His) single nucleotide variant not provided [RCV002932984] Chr10:116553746 [GRCh38]
Chr10:118313258 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1254T>C (p.Ile418=) single nucleotide variant not provided [RCV002958750] Chr10:116561556 [GRCh38]
Chr10:118321068 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.420C>A (p.Ile140=) single nucleotide variant not provided [RCV002871644] Chr10:116551193 [GRCh38]
Chr10:118310705 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.571+5G>A single nucleotide variant not provided [RCV002663274] Chr10:116553843 [GRCh38]
Chr10:118313355 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.633C>T (p.Ser211=) single nucleotide variant not provided [RCV002917322] Chr10:116555239 [GRCh38]
Chr10:118314751 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.459+12C>T single nucleotide variant not provided [RCV002740953] Chr10:116551244 [GRCh38]
Chr10:118310756 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.211G>A (p.Ala71Thr) single nucleotide variant not provided [RCV002928757] Chr10:116548369 [GRCh38]
Chr10:118307881 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1360G>T (p.Val454Phe) single nucleotide variant not provided [RCV002623504] Chr10:116567760 [GRCh38]
Chr10:118327272 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1224T>C (p.Asp408=) single nucleotide variant not provided [RCV002595145] Chr10:116561526 [GRCh38]
Chr10:118321038 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.172T>C (p.Tyr58His) single nucleotide variant not provided [RCV002928604] Chr10:116547419 [GRCh38]
Chr10:118306931 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.571+10A>G single nucleotide variant not provided [RCV002917885] Chr10:116553848 [GRCh38]
Chr10:118313360 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.808G>A (p.Glu270Lys) single nucleotide variant not provided [RCV002632937] Chr10:116555504 [GRCh38]
Chr10:118315016 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.237C>T (p.Ser79=) single nucleotide variant not provided [RCV003049108] Chr10:116548395 [GRCh38]
Chr10:118307907 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.571+1G>T single nucleotide variant not provided [RCV003031799] Chr10:116553839 [GRCh38]
Chr10:118313351 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.692-16A>G single nucleotide variant not provided [RCV002745999] Chr10:116555372 [GRCh38]
Chr10:118314884 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.383G>A (p.Arg128Gln) single nucleotide variant not specified [RCV004073805] Chr10:116551156 [GRCh38]
Chr10:118310668 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1111C>T (p.His371Tyr) single nucleotide variant not provided [RCV002599574] Chr10:116560466 [GRCh38]
Chr10:118319978 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1178T>G (p.Leu393Arg) single nucleotide variant not provided [RCV002810384] Chr10:116561480 [GRCh38]
Chr10:118320992 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1360G>A (p.Val454Ile) single nucleotide variant not provided [RCV003061011] Chr10:116567760 [GRCh38]
Chr10:118327272 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1033G>C (p.Asp345His) single nucleotide variant not provided [RCV002746459] Chr10:116559256 [GRCh38]
Chr10:118318768 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.405G>A (p.Ser135=) single nucleotide variant not provided [RCV002628699] Chr10:116551178 [GRCh38]
Chr10:118310690 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.603C>G (p.Gly201=) single nucleotide variant not provided [RCV002746004] Chr10:116555209 [GRCh38]
Chr10:118314721 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.557T>C (p.Ile186Thr) single nucleotide variant not provided [RCV002938684] Chr10:116553824 [GRCh38]
Chr10:118313336 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.427G>T (p.Ala143Ser) single nucleotide variant not provided [RCV002900520] Chr10:116551200 [GRCh38]
Chr10:118310712 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.38C>T (p.Ala13Val) single nucleotide variant not provided [RCV002631231] Chr10:116546130 [GRCh38]
Chr10:118305642 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1061-20G>T single nucleotide variant not provided [RCV002899279] Chr10:116560396 [GRCh38]
Chr10:118319908 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.699A>T (p.Gly233=) single nucleotide variant not provided [RCV002922227] Chr10:116555395 [GRCh38]
Chr10:118314907 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.59G>T (p.Cys20Phe) single nucleotide variant not provided [RCV002834386] Chr10:116547306 [GRCh38]
Chr10:118306818 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.811+5A>G single nucleotide variant PNLIP-related disorder [RCV003906557]|not provided [RCV002651305] Chr10:116555512 [GRCh38]
Chr10:118315024 [GRCh37]
Chr10:10q25.3		 likely benign|uncertain significance
NM_000936.4(PNLIP):c.1061G>T (p.Arg354Leu) single nucleotide variant not specified [RCV004173750] Chr10:116560416 [GRCh38]
Chr10:118319928 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1382C>T (p.Thr461Ile) single nucleotide variant not provided [RCV002922464] Chr10:116567782 [GRCh38]
Chr10:118327294 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.973_974del (p.Gly325fs) deletion not provided [RCV002832958] Chr10:116559195..116559196 [GRCh38]
Chr10:118318707..118318708 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1145A>G (p.Asn382Ser) single nucleotide variant not provided [RCV003045850]|not specified [RCV004068650] Chr10:116560500 [GRCh38]
Chr10:118320012 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.475T>G (p.Ser159Ala) single nucleotide variant not provided [RCV003047596] Chr10:116553742 [GRCh38]
Chr10:118313254 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.129A>G (p.Ile43Met) single nucleotide variant not provided [RCV002815143] Chr10:116547376 [GRCh38]
Chr10:118306888 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.692-5_692-4insCT insertion not provided [RCV002585425] Chr10:116555382..116555383 [GRCh38]
Chr10:118314894..118314895 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.461C>T (p.Ser154Leu) single nucleotide variant not provided [RCV002606332] Chr10:116553728 [GRCh38]
Chr10:118313240 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.965C>A (p.Pro322Gln) single nucleotide variant not specified [RCV004173915] Chr10:116559188 [GRCh38]
Chr10:118318700 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.115A>G (p.Arg39Gly) single nucleotide variant not provided [RCV003066148] Chr10:116547362 [GRCh38]
Chr10:118306874 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.459+10C>T single nucleotide variant not provided [RCV002603090] Chr10:116551242 [GRCh38]
Chr10:118310754 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.400G>A (p.Ala134Thr) single nucleotide variant not provided [RCV003050274] Chr10:116551173 [GRCh38]
Chr10:118310685 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.46+19G>A single nucleotide variant not provided [RCV003051629] Chr10:116546157 [GRCh38]
Chr10:118305669 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.131T>G (p.Leu44Trp) single nucleotide variant not provided [RCV002585314]|not specified [RCV004068801] Chr10:116547378 [GRCh38]
Chr10:118306890 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.823T>G (p.Phe275Val) single nucleotide variant not provided [RCV003049490]|not specified [RCV004068732] Chr10:116556011 [GRCh38]
Chr10:118315523 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.459+3A>G single nucleotide variant not provided [RCV003052067] Chr10:116551235 [GRCh38]
Chr10:118310747 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV002610987] Chr10:116553830 [GRCh38]
Chr10:118313342 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1212C>G (p.Asp404Glu) single nucleotide variant not provided [RCV002814568] Chr10:116561514 [GRCh38]
Chr10:118321026 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.30G>A (p.Leu10=) single nucleotide variant not provided [RCV002585243] Chr10:116546122 [GRCh38]
Chr10:118305634 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1132G>A (p.Gly378Arg) single nucleotide variant not provided [RCV002611401] Chr10:116560487 [GRCh38]
Chr10:118319999 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.663G>A (p.Thr221=) single nucleotide variant not provided [RCV002634034] Chr10:116555269 [GRCh38]
Chr10:118314781 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1102G>A (p.Val368Ile) single nucleotide variant not provided [RCV002612180] Chr10:116560457 [GRCh38]
Chr10:118319969 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1008T>C (p.Asn336=) single nucleotide variant not provided [RCV003073120] Chr10:116559231 [GRCh38]
Chr10:118318743 [GRCh37]
Chr10:10q25.3		 benign
NM_000936.4(PNLIP):c.1113C>T (p.His371=) single nucleotide variant not provided [RCV003073419] Chr10:116560468 [GRCh38]
Chr10:118319980 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.686A>G (p.Asn229Ser) single nucleotide variant Pancreatic triacylglycerol lipase deficiency [RCV003135057] Chr10:116555292 [GRCh38]
Chr10:118314804 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.436G>T (p.Ala146Ser) single nucleotide variant not specified [RCV004306533] Chr10:116551209 [GRCh38]
Chr10:118310721 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.421G>T (p.Val141Leu) single nucleotide variant not specified [RCV004253234] Chr10:116551194 [GRCh38]
Chr10:118310706 [GRCh37]
Chr10:10q25.3		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_000936.4(PNLIP):c.717C>T (p.Gly239=) single nucleotide variant not provided [RCV003686211] Chr10:116555413 [GRCh38]
Chr10:118314925 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.912T>C (p.Ser304=) single nucleotide variant not provided [RCV003874991] Chr10:116556100 [GRCh38]
Chr10:118315612 [GRCh37]
Chr10:10q25.3		 likely benign
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_000936.4(PNLIP):c.1355A>G (p.Glu452Gly) single nucleotide variant not provided [RCV003695475] Chr10:116567755 [GRCh38]
Chr10:118327267 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.460-3C>T single nucleotide variant not provided [RCV003696596] Chr10:116553724 [GRCh38]
Chr10:118313236 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1214C>A (p.Ser405Ter) single nucleotide variant not provided [RCV003579408] Chr10:116561516 [GRCh38]
Chr10:118321028 [GRCh37]
Chr10:10q25.3		 pathogenic
NM_000936.4(PNLIP):c.1157A>G (p.Tyr386Cys) single nucleotide variant not provided [RCV003687322] Chr10:116560512 [GRCh38]
Chr10:118320024 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.346G>A (p.Val116Met) single nucleotide variant not provided [RCV003689127] Chr10:116551119 [GRCh38]
Chr10:118310631 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.811+7C>A single nucleotide variant not provided [RCV003696592] Chr10:116555514 [GRCh38]
Chr10:118315026 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.124C>T (p.His42Tyr) single nucleotide variant not provided [RCV003695490] Chr10:116547371 [GRCh38]
Chr10:118306883 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.811+1G>A single nucleotide variant not provided [RCV003830569] Chr10:116555508 [GRCh38]
Chr10:118315020 [GRCh37]
Chr10:10q25.3		 likely pathogenic
NM_000936.4(PNLIP):c.116G>A (p.Arg39Lys) single nucleotide variant not provided [RCV003694014] Chr10:116547363 [GRCh38]
Chr10:118306875 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.399del (p.Ala134fs) deletion not provided [RCV003692216] Chr10:116551171 [GRCh38]
Chr10:118310683 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.650A>G (p.Asp217Gly) single nucleotide variant not provided [RCV003715467] Chr10:116555256 [GRCh38]
Chr10:118314768 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.281T>C (p.Phe94Ser) single nucleotide variant not provided [RCV003876493] Chr10:116548439 [GRCh38]
Chr10:118307951 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.867T>C (p.Asp289=) single nucleotide variant not provided [RCV003662922] Chr10:116556055 [GRCh38]
Chr10:118315567 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1012G>A (p.Val338Met) single nucleotide variant not provided [RCV003716145] Chr10:116559235 [GRCh38]
Chr10:118318747 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.909C>T (p.Ala303=) single nucleotide variant not provided [RCV003662155] Chr10:116556097 [GRCh38]
Chr10:118315609 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.460-1G>A single nucleotide variant not provided [RCV003574582] Chr10:116553726 [GRCh38]
Chr10:118313238 [GRCh37]
Chr10:10q25.3		 likely pathogenic
NM_000936.4(PNLIP):c.1107A>G (p.Thr369=) single nucleotide variant not provided [RCV003663243] Chr10:116560462 [GRCh38]
Chr10:118319974 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.830C>T (p.Ala277Val) single nucleotide variant not provided [RCV003716384] Chr10:116556018 [GRCh38]
Chr10:118315530 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.8C>T (p.Pro3Leu) single nucleotide variant not provided [RCV003548240] Chr10:116546100 [GRCh38]
Chr10:118305612 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.325-14G>T single nucleotide variant not provided [RCV003666257] Chr10:116551084 [GRCh38]
Chr10:118310596 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1169+14T>C single nucleotide variant not provided [RCV003698436] Chr10:116560538 [GRCh38]
Chr10:118320050 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1061G>A (p.Arg354His) single nucleotide variant not provided [RCV003702661] Chr10:116560416 [GRCh38]
Chr10:118319928 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.4C>T (p.Leu2=) single nucleotide variant not provided [RCV003664517] Chr10:116546096 [GRCh38]
Chr10:118305608 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.692-19T>C single nucleotide variant not provided [RCV003664544] Chr10:116555369 [GRCh38]
Chr10:118314881 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.693G>A (p.Gly231=) single nucleotide variant not provided [RCV003664414] Chr10:116555389 [GRCh38]
Chr10:118314901 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.827C>T (p.Ala276Val) single nucleotide variant not provided [RCV003665515] Chr10:116556015 [GRCh38]
Chr10:118315527 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.47-8G>C single nucleotide variant not provided [RCV003703276] Chr10:116547286 [GRCh38]
Chr10:118306798 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.111G>A (p.Thr37=) single nucleotide variant not provided [RCV003559016] Chr10:116547358 [GRCh38]
Chr10:118306870 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.360T>C (p.Cys120=) single nucleotide variant not provided [RCV003726646] Chr10:116551133 [GRCh38]
Chr10:118310645 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.404C>T (p.Ser135Leu) single nucleotide variant not provided [RCV003671826] Chr10:116551177 [GRCh38]
Chr10:118310689 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.148del (p.Asp50fs) deletion not provided [RCV003726265] Chr10:116547395 [GRCh38]
Chr10:118306907 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.324+6A>T single nucleotide variant not provided [RCV003663803] Chr10:116548488 [GRCh38]
Chr10:118308000 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.528G>A (p.Gly176=) single nucleotide variant not provided [RCV003673394] Chr10:116553795 [GRCh38]
Chr10:118313307 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1061-3C>T single nucleotide variant not provided [RCV003669729] Chr10:116560413 [GRCh38]
Chr10:118319925 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.210C>T (p.Ala70=) single nucleotide variant not provided [RCV003702973] Chr10:116548368 [GRCh38]
Chr10:118307880 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.812-12T>C single nucleotide variant not provided [RCV003700688] Chr10:116555988 [GRCh38]
Chr10:118315500 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.150T>C (p.Asp50=) single nucleotide variant not provided [RCV003559262] Chr10:116547397 [GRCh38]
Chr10:118306909 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.811+15T>G single nucleotide variant not provided [RCV003700826] Chr10:116555522 [GRCh38]
Chr10:118315034 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.405G>T (p.Ser135=) single nucleotide variant not provided [RCV003663828] Chr10:116551178 [GRCh38]
Chr10:118310690 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.12T>G (p.Leu4=) single nucleotide variant not provided [RCV003666922] Chr10:116546104 [GRCh38]
Chr10:118305616 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.459+13G>A single nucleotide variant not provided [RCV003698576] Chr10:116551245 [GRCh38]
Chr10:118310757 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.692G>T (p.Gly231Val) single nucleotide variant not provided [RCV003668580] Chr10:116555388 [GRCh38]
Chr10:118314900 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.548A>G (p.Asn183Ser) single nucleotide variant not provided [RCV003671769]|not specified [RCV004371545] Chr10:116553815 [GRCh38]
Chr10:118313327 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.376_414dup (p.Ile138_Arg139insGlySerArgThrGlyTyrThrGlnAlaSerGlnAsnIle) duplication not provided [RCV003696849] Chr10:116551148..116551149 [GRCh38]
Chr10:118310660..118310661 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1061-11C>A single nucleotide variant not provided [RCV003671464] Chr10:116560405 [GRCh38]
Chr10:118319917 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1335-9T>C single nucleotide variant not provided [RCV003672448] Chr10:116567726 [GRCh38]
Chr10:118327238 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.691+16C>T single nucleotide variant not provided [RCV003675439] Chr10:116555313 [GRCh38]
Chr10:118314825 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1061-11C>T single nucleotide variant not provided [RCV003681917] Chr10:116560405 [GRCh38]
Chr10:118319917 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.380C>T (p.Ser127Phe) single nucleotide variant not provided [RCV003674730] Chr10:116551153 [GRCh38]
Chr10:118310665 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.930+8G>T single nucleotide variant not provided [RCV003712039] Chr10:116556126 [GRCh38]
Chr10:118315638 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1230G>A (p.Gly410=) single nucleotide variant PNLIP-related disorder [RCV003946681]|not provided [RCV003553572] Chr10:116561532 [GRCh38]
Chr10:118321044 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.571+17A>G single nucleotide variant not provided [RCV003568150] Chr10:116553855 [GRCh38]
Chr10:118313367 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.859T>C (p.Tyr287His) single nucleotide variant not provided [RCV003705326] Chr10:116556047 [GRCh38]
Chr10:118315559 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.421G>A (p.Val141Met) single nucleotide variant not provided [RCV003709612] Chr10:116551194 [GRCh38]
Chr10:118310706 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1341C>T (p.Asn447=) single nucleotide variant not provided [RCV003705442] Chr10:116567741 [GRCh38]
Chr10:118327253 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.460-6C>T single nucleotide variant not provided [RCV003872387] Chr10:116553721 [GRCh38]
Chr10:118313233 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1335-8C>A single nucleotide variant not provided [RCV003563377] Chr10:116567727 [GRCh38]
Chr10:118327239 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.562C>T (p.Arg188Cys) single nucleotide variant not provided [RCV003722310] Chr10:116553829 [GRCh38]
Chr10:118313341 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.915C>T (p.Tyr305=) single nucleotide variant not provided [RCV003566781] Chr10:116556103 [GRCh38]
Chr10:118315615 [GRCh37]
Chr10:10q25.3		 likely benign
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13		 likely pathogenic
NM_000936.4(PNLIP):c.187C>T (p.Pro63Ser) single nucleotide variant not provided [RCV003722800] Chr10:116547434 [GRCh38]
Chr10:118306946 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.672C>T (p.Ala224=) single nucleotide variant not provided [RCV003871515] Chr10:116555278 [GRCh38]
Chr10:118314790 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.745G>A (p.Val249Met) single nucleotide variant not provided [RCV003721254] Chr10:116555441 [GRCh38]
Chr10:118314953 [GRCh37]
Chr10:10q25.3		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000936.4(PNLIP):c.1115T>C (p.Ile372Thr) single nucleotide variant not provided [RCV003734099] Chr10:116560470 [GRCh38]
Chr10:118319982 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.47-16T>G single nucleotide variant not provided [RCV003541989] Chr10:116547278 [GRCh38]
Chr10:118306790 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.818G>A (p.Arg273Gln) single nucleotide variant not provided [RCV003706040] Chr10:116556006 [GRCh38]
Chr10:118315518 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1122T>C (p.Val374=) single nucleotide variant not provided [RCV003555710] Chr10:116560477 [GRCh38]
Chr10:118319989 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.946_951dup (p.Pro317_Ser318insCysPro) duplication not provided [RCV003730707] Chr10:116559168..116559169 [GRCh38]
Chr10:118318680..118318681 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1087C>A (p.Leu363Met) single nucleotide variant not provided [RCV003729314] Chr10:116560442 [GRCh38]
Chr10:118319954 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1218T>G (p.Asp406Glu) single nucleotide variant not provided [RCV003678182] Chr10:116561520 [GRCh38]
Chr10:118321032 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.799G>A (p.Gly267Arg) single nucleotide variant not provided [RCV003710665] Chr10:116555495 [GRCh38]
Chr10:118315007 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.981T>C (p.Tyr327=) single nucleotide variant not provided [RCV003866099] Chr10:116559204 [GRCh38]
Chr10:118318716 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.919G>A (p.Val307Ile) single nucleotide variant not provided [RCV003731361] Chr10:116556107 [GRCh38]
Chr10:118315619 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.324+10G>A single nucleotide variant not provided [RCV003709909] Chr10:116548492 [GRCh38]
Chr10:118308004 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.1372G>T (p.Val458Phe) single nucleotide variant not specified [RCV004509707] Chr10:116567772 [GRCh38]
Chr10:118327284 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.1045G>A (p.Ala349Thr) single nucleotide variant not specified [RCV004509706] Chr10:116559268 [GRCh38]
Chr10:118318780 [GRCh37]
Chr10:10q25.3		 uncertain significance
NM_000936.4(PNLIP):c.930A>G (p.Ala310=) single nucleotide variant PNLIP-related disorder [RCV003963963] Chr10:116556118 [GRCh38]
Chr10:118315630 [GRCh37]
Chr10:10q25.3		 likely benign
NM_000936.4(PNLIP):c.70C>T (p.Leu24Phe) single nucleotide variant not specified [RCV004509709] Chr10:116547317 [GRCh38]
Chr10:118306829 [GRCh37]
Chr10:10q25.3		 uncertain significance
NC_000010.10:g.(?_117823909)_(119750414_?)dup duplication Microphthalmia, syndromic 11 [RCV004581671] Chr10:117823909..119750414 [GRCh37]
Chr10:10q25.3-26.11		 uncertain significance
NC_000010.10:g.(?_118310723)_(118311902_?)del deletion not provided [RCV004581720] Chr10:118310723..118311902 [GRCh37]
Chr10:10q25.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:77
Count of miRNA genes:73
Interacting mature miRNAs:76
Transcripts:ENST00000369221, ENST00000470562
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407012511GWAS661487_Hbone density QTL GWAS661487 (human)4e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)10116546875116546876Human

Markers in Region
SHGC-79423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710118,307,899 - 118,308,228UniSTSGRCh37
Build 3610118,297,889 - 118,298,218RGDNCBI36
Celera10112,037,175 - 112,037,504RGD
Cytogenetic Map10q26.1UniSTS
HuRef10111,935,124 - 111,935,453UniSTS
TNG Radiation Hybrid Map1057326.0UniSTS
SHGC-173626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710118,304,207 - 118,304,528UniSTSGRCh37
Build 3610118,294,197 - 118,294,518RGDNCBI36
Celera10112,033,483 - 112,033,804RGD
Cytogenetic Map10q26.1UniSTS
HuRef10111,931,432 - 111,931,753UniSTS
TNG Radiation Hybrid Map1057329.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
897 1792 1868 1564 3196 1176 1337 1 335 846 215 1525 4287 4157 2 2315 470 1347 889 120

Sequence


Ensembl Acc Id: ENST00000369221   ⟹   ENSP00000358223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10116,545,931 - 116,567,855 (+)Ensembl
Ensembl Acc Id: ENST00000470562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10116,546,093 - 116,551,288 (+)Ensembl
RefSeq Acc Id: NM_000936   ⟹   NP_000927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810116,545,931 - 116,567,855 (+)NCBI
GRCh3710118,305,428 - 118,327,367 (+)ENTREZGENE
Build 3610118,295,418 - 118,317,357 (+)NCBI Archive
HuRef10111,932,653 - 111,954,591 (+)ENTREZGENE
CHM1_110118,588,590 - 118,610,538 (+)NCBI
T2T-CHM13v2.010117,439,962 - 117,461,884 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000927   ⟸   NM_000936
- Peptide Label: precursor
- UniProtKB: Q5VSQ2 (UniProtKB/Swiss-Prot),   P16233 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000358223   ⟸   ENST00000369221
Protein Domains
PLAT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P16233-F1-model_v2 AlphaFold P16233 1-465 view protein structure

Promoters
RGD ID:7218751
Promoter ID:EPDNEW_H15121
Type:single initiation site
Name:PNLIP_2
Description:pancreatic lipase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15122  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810116,545,565 - 116,545,625EPDNEW
RGD ID:7218753
Promoter ID:EPDNEW_H15122
Type:multiple initiation site
Name:PNLIP_1
Description:pancreatic lipase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15121  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810116,545,931 - 116,545,991EPDNEW
RGD ID:6851170
Promoter ID:EP73382
Type:single initiation site
Name:HS_PNLIP
Description:Pancreatic lipase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 3610118,295,433 - 118,295,493EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9155 AgrOrtholog
COSMIC PNLIP COSMIC
Ensembl Genes ENSG00000175535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369221 ENTREZGENE
  ENST00000369221.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot
  PLAT/LH2 domain UniProtKB/Swiss-Prot
GTEx ENSG00000175535 GTEx
HGNC ID HGNC:9155 ENTREZGENE
Human Proteome Map PNLIP Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot
  Lipase/vitellogenin UniProtKB/Swiss-Prot
  Lipase_LIPH UniProtKB/Swiss-Prot
  Lipase_N UniProtKB/Swiss-Prot
  Lipase_panc UniProtKB/Swiss-Prot
  PLAT/LH2_dom UniProtKB/Swiss-Prot
  PLAT/LH2_dom_sf UniProtKB/Swiss-Prot
  TAG_lipase UniProtKB/Swiss-Prot
KEGG Report hsa:5406 UniProtKB/Swiss-Prot
NCBI Gene 5406 ENTREZGENE
OMIM 246600 OMIM
PANTHER PANCREATIC TRIACYLGLYCEROL LIPASE UniProtKB/Swiss-Prot
  PTHR11610 UniProtKB/Swiss-Prot
Pfam Lipase UniProtKB/Swiss-Prot
  PLAT UniProtKB/Swiss-Prot
PharmGKB PA33478 PharmGKB
PIRSF Lipoprotein_lipase_LIPH UniProtKB/Swiss-Prot
PRINTS PANCLIPASE UniProtKB/Swiss-Prot
  TAGLIPASE UniProtKB/Swiss-Prot
PROSITE LIPASE_SER UniProtKB/Swiss-Prot
  PLAT UniProtKB/Swiss-Prot
SMART LH2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49723 UniProtKB/Swiss-Prot
  SSF53474 UniProtKB/Swiss-Prot
UniProt LIPP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5VSQ2 ENTREZGENE
UniProt Secondary Q5VSQ2 UniProtKB/Swiss-Prot